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Gene | PTEN |
Variant | K128_R130del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN K128_R130del results in the deletion of 3 amino acids in the phosphatase tensin-type domain of the Pten protein from amino acids 128 to 130 (UniProt.org). K128_R130del confers a loss of function on the Pten protein as indicated by failure to regulate glucose uptake and to dephosphorylate AKT in cell culture (PMID: 27829222). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN K128_R130del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933142_87933150delAGGGACGAA |
cDNA | c.383_391delAGGGACGAA |
Protein | p.K128_R130delKGR |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304717.2 | chr10:g.87864332_87864340delCAGAGCCAA | c.382_390delCAGAGCCAA | p.Q128_Q130delQSQ | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933142_87933150delAGGGACGAA | c.383_391delAGGGACGAA | p.K128_R130delKGR | RefSeq | GRCh38/hg38 |
NM_001304717 | chr10:g.87864332_87864340delCAGAGCCAA | c.382_390delCAGAGCCAA | p.Q128_Q130delQSQ | RefSeq | GRCh38/hg38 |
NM_001304718.2 | chr10:g.87961065_87961073delCTTGACAAA | c.382_390delCTTGACAAA | p.L128_K130delLDK | RefSeq | GRCh38/hg38 |
NM_001304718.1 | chr10:g.87961065_87961073delCTTGACAAA | c.382_390delCTTGACAAA | p.L128_K130delLDK | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864332_87864340delCAGAGCCAA | c.382_390delCAGAGCCAA | p.Q128_Q130delQSQ | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933142_87933150delAGGGACGAA | c.383_391delAGGGACGAA | p.K128_R130delKGR | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933142_87933150delAGGGACGAA | c.383_391delAGGGACGAA | p.K128_R130delKGR | RefSeq | GRCh38/hg38 |
NM_001304718 | chr10:g.87961065_87961073delCTTGACAAA | c.382_390delCTTGACAAA | p.L128_K130delLDK | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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